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An Ashkenazi founder mutation in the PKHD1 gene.
Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. Quint A, et al. Among authors: carmi s. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. Eur J Med Genet. 2016. PMID: 26721323
Expanded genetic screening panel for the Ashkenazi Jewish population.
Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C. Baskovich B, et al. Among authors: carmi s. Genet Med. 2016 May;18(5):522-8. doi: 10.1038/gim.2015.123. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334176 Free PMC article.
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.
Backenroth D, Zahdeh F, Kling Y, Peretz A, Rosen T, Kort D, Zeligson S, Dror T, Kirshberg S, Burak E, Segel R, Levy-Lahad E, Zangen D, Altarescu G, Carmi S, Zeevi DA. Backenroth D, et al. Among authors: carmi s. Genet Med. 2019 Jun;21(6):1390-1399. doi: 10.1038/s41436-018-0351-7. Epub 2018 Nov 19. Genet Med. 2019. PMID: 30449887 Free article.
In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.
Winther M, Shpitzen S, Yaacov O, Landau J, Oren L, Foroozan-Rosenberg L, Lev Cohain N, Schurr D, Meiner V, Szalat A, Carmi S, Hayden MR, Leitersdorf E, Durst R. Winther M, et al. Among authors: carmi s. J Lipid Res. 2019 Oct;60(10):1733-1740. doi: 10.1194/jlr.M092049. Epub 2019 Aug 6. J Lipid Res. 2019. PMID: 31387896 Free PMC article.
93 results